Associated Papers
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S7
Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.
Frigeni M et al.
Biochimica Et Biophysica Acta, 2016
Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.
Amat di San Filippo C et al.
The Journal of Biological Chemistry, 2003
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